autosomaal recessieve hereditaire aandoening
congenitale neutropenie
gecombineerde immunodeficiëntie
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Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency (disorder)
Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency
MKL1-related neutrophil motility defect
Congenital neutropenia, combined immunodeficiency due to megakaryoblastic leukemia 1 deficiency
Congenital neutropenia-CID (combined immunodeficiency) due to MKL1 deficiency
A rare primary immunodeficiency due to a defect in innate immunity characterized by infantile-onset severe, recurrent bacterial infections. Patients may present with septic shock, meningitis, progressive and severe pneumonia (mostly associated with Pseudomonas infection), malignant otitis media, cutaneous and subcutaneous abscesses and poor wound healing. Severe impairment in neutrophil phagocytosis/migration are reported in all patients. Mild thrombocytopenia can also be present.
Id1371048007
StatusPrimitive
Occurrencecongenitaal
Pathological processafwijkend immuunproces
Has interpretationonder referentiebereik
Interpretsbepalen van neutrofielen
SNOMED CT to ICD-10 extended map
TargetD71
RuleTRUE
AdviceALWAYS D71 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified